This comprehensive volume collects contributions by leading experts on neonatal diabetes. It provides the reader with the most up-to-date information about all the progresses that have been made and that have led to the clarification of the pathogenesis of all the forms of diabetes.
From pathogenesis to novelty in therapy, the book will cover all aspects of the diagnosis and treatment also discussing rare forms of early onset diabetes, insulin therapy, pump therapy and technologies, acute and chronic complications.The volume is enhanced by videos showing the impact of treatments on movement difficulties, psychomotor development, and muscle tone. Slide decks with key messages are also available for download and usage during congresses and lessons.
This book will be of benefit to pediatricians, endocrinologists, neonatologists and all physicians who deal with neonates affected by this disease
Author(s): Ivana Rabbone, Dario Iafusco
Publisher: Springer
Year: 2023
Language: English
Pages: 118
City: Cham
Contents
Chapter 1: History of Neonatal Diabetes
References
Chapter 2: Pathogenesis (of Neonatal Diabetes and Early Onset Diabetes)
2.1 Definition and Scope
References
Chapter 3: Epidemiology
3.1 Background
3.2 Neonatal Hyperglycemia
3.3 Neonatal Diabetes Mellitus: General Overview
3.4 Prevalence and Incidence
3.5 Europe
3.5.1 Poland
3.5.2 Germany and Austria
3.5.3 Italy
3.5.4 Slovakia
3.5.5 Ukraine
3.6 Asia
3.6.1 China
3.6.2 Japan
3.7 South Pacific
3.7.1 Fiji
3.8 Middle-East
3.8.1 Oman
3.8.2 Jordan
3.8.3 United Arab Emirates
3.8.4 Saudi Arabia
3.8.5 Iran
3.8.6 Turkey
3.8.7 Qatar
3.9 North America
3.9.1 United States
3.10 Conclusions
3.11 Conclusion
References
Chapter 4: Classification of Neonatal Diabetes
4.1 Neonatal Diabetes
4.2 Clinical Classification
4.2.1 Transient Neonatal Diabetes
4.2.2 Permanent Neonatal Diabetes
4.2.3 Syndromic Neonatal and Early-Onset Diabetes
4.3 Genetic and Biological Classification
4.3.1 Defects in Glucose Sensing/Insulin Secretion
4.3.1.1 Neonatal Diabetes Caused by Activating KCNJ11 and ABCC8 Mutations
4.3.1.2 Neonatal Diabetes Caused by Autosomal Recessive INS Mutations
4.3.1.3 Neonatal Diabetes Caused by Autosomal Recessive GCK Mutations
4.3.1.4 Neonatal Diabetes Caused by Autosomal Recessive SLC2A2 Mutations (Fanconi-Bickel Syndrome)
4.3.1.5 Neonatal Diabetes Caused by Autosomal Recessive SLC19A2 Mutations (Thiamine Responsive Megaloblastic Anemia—TRMA—Syndrome, also Called Roger’s Syndrome)
4.3.2 Beta-Cell Development
4.3.2.1 Neonatal Diabetes Caused by Failure of Pancreatic Development
Neonatal Diabetes Caused by Autosomal Recessive PDX1 Mutations
Neonatal Diabetes Caused by Autosomal Recessive PTF1A Mutations
Neonatal Diabetes Caused by Autosomal Dominant HNF1B Mutations
Neonatal Diabetes Caused by Autosomal Recessive RFX6 Mutations (Mitchell-Riley Syndrome)
Neonatal Diabetes Caused by Autosomal Dominant Mutations in GATA6
Neonatal and Early-Onset Diabetes Caused by Autosomal Dominant Mutations in GATA4
Neonatal Diabetes Caused by a Specific Heterozygous CNOT1 Mutation
4.3.2.2 Neonatal Diabetes Caused by Failure of Beta-Cell Development
Neonatal Diabetes Caused by Autosomal Recessive GLIS3 Mutations (NDH Syndrome)
Neonatal Diabetes Caused by Autosomal Recessive NEUROD1 Mutations
Neonatal Diabetes Caused by Autosomal Recessive NEUROG3 Mutations
Neonatal Diabetes Caused by Autosomal Recessive NKX2–2 Mutations
Neonatal Diabetes Caused by Autosomal Recessive MNX1 Mutations
4.3.3 Non-autoimmune Beta-Cell Death
4.3.3.1 Neonatal Diabetes Caused by Autosomal Dominant INS Mutations
4.3.3.2 Neonatal Diabetes Caused by Autosomal Recessive EIF2AK3 Mutation (Wolcott-Rallison Syndrome)
4.3.3.3 Neonatal Diabetes Caused by Autosomal Recessive Mutations in IER3IP1 (Microcephaly, Epilepsy, and Diabetes Syndrome 1; MEDS1)
4.3.3.4 Neonatal and Early-Onset Diabetes Caused by X-Linked Mutations in EIF2S3 (MEHMO Syndrome)
4.3.3.5 Neonatal and Early-Onset Diabetes Caused by Autosomal Dominant WFS1 Mutations
4.3.3.6 Neonatal and Early-Onset Diabetes Caused by Autosomal Dominant EIF2B1 Mutations
4.3.3.7 Neonatal and Early-Onset Diabetes Caused by Autosomal Recessive YIPF5 Mutations
4.3.4 Monogenic Autoimmune Beta-Cell Destruction
4.3.4.1 Neonatal and Early-Onset Diabetes Caused by X-Linked Recessive FOXP3 Mutations
4.3.4.2 Neonatal Diabetes Caused by Autosomal Recessive IL2RA Mutations
4.3.4.3 Neonatal Diabetes Caused by Autosomal Recessive LRBA Mutations
4.3.4.4 Neonatal Diabetes Caused by Autosomal Dominant STAT3 Mutation
4.3.4.5 Neonatal Diabetes Caused by Trisomy 21
4.3.5 Early-Onset Type 1 Diabetes
4.3.6 6q24 Methylation Defects Causing Transient Neonatal Diabetes
4.3.6.1 Transient Neonatal Diabetes Caused by Autosomal Recessive ZFP57 Mutations
4.4 Conclusions
References
Chapter 5: Rare Forms of Early Onset Diabetes
5.1 Introduction
5.1.1 Case #1
5.1.2 Case #2
5.1.3 Case #3
5.1.4 Case #4
5.1.5 Case #5
5.1.6 Case #6
References
Chapter 6: Insulin Therapy
6.1 Introduction
6.2 Management of the Acute Phase of Neonatal Diabetes
6.3 Strategies for Long-Term Management and Transferring to Oral Therapy
6.4 Hyperglycemia in Preterm and Low Birth Weight Infants and Insulin Use
References
Chapter 7: Pump Therapy and Use of Technologies
7.1 Introduction
7.2 Continuous Glucose Monitoring System in Newborns
7.2.1 CGM Functioning and Sensor Types
7.2.2 Advantages of CGM Use in Neonatal Care
7.2.3 CMG and NDM
7.3 Use of CSII in NDM Management
7.3.1 CSII Characteristics
7.3.2 Insulin Requirements
7.3.3 Advantages of CSII Use in NDM
7.3.4 Pitfalls in CSII Use
7.3.5 Safety and Efficacy of CSII
7.4 SAP in NDM
7.5 Conclusion
References
Chapter 8: Oral Pharmacological Treatment of Neonatal Diabetes
References
Chapter 9: Complications Acute and Chronic
9.1 Gene Mutations
9.1.1 HNF4A
9.1.2 Glucokinase
9.1.3 Hepatocyte Nuclear Factor-1-Alpha
9.1.4 HNF1B
9.1.5 KCNJ11 and ABCC8
9.1.6 Insulin
9.1.7 GLIS3
9.1.8 NeuroG3
9.1.9 NeuroD1
9.1.10 PAX6
9.1.11 MNX1
9.1.12 STAT3
9.1.13 NKX2-2
9.1.14 Wolfram Syndrome
References
